Cellosaurus cell line CRICKi004-A (CVCL

Cross-references
Cell line name	CRICKi004-A
Synonyms	iFCI008
Accession	CVCL_C3QZ
Resource Identification Initiative	To cite this cell line use: CRICKi004-A (RRID:CVCL_C3QZ)
Comments	From: The Francis Crick Institute Limited; London; United Kingdom. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:2961; DYNC1H1; Simple; p.Arg399Gly (c.1195A>G); ClinVar=VCV000637515; Zygosity=Homozygous (PubMed=36332468).
Disease	Autosomal dominant lower extremity-predominant spinal muscular atrophy-1 (NCIt: C191765) DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy (ORDO: Orphanet_209341)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	3Y
Category	Induced pluripotent stem cell
Publications	PubMed=36332468; DOI=10.1016/j.scr.2022.102954 Liani Gasparini Devito, Fay Cooper, Ilenia D'Angelo, James Cuthbert Smith, Lyn E. Healy; Generation of four iPSC lines (CRICKi004-A; CRICKi005-A; CRICKi006-A, CRICKi007-A) from spinal muscle atrophy patients with lower extremity dominant (SMALED) phenotype. Stem Cell Res. 65:102954-102954(2022)
Cell line databases/resources	hPSCreg; CRICKi004-A
Biological sample resources	BioSamples; SAMEA111497816
Encyclopedic resources	Wikidata; Q116048787
Entry history
Entry creation	15-Dec-2022
Last entry update	19-Dec-2024
Version number	5